ClinVar Miner

List of variants reported as benign for Dowling-Degos disease

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_152305.3(POGLUT1):c.457-25G>A rs4688007 0.81781
NM_015352.2(POFUT1):c.75T>C (p.Pro25=) rs1923095 0.69055
NM_152305.3(POGLUT1):c.456+39G>T rs3732419 0.59158
NM_000424.4(KRT5):c.594C>A (p.Thr198=) rs641621 0.22738
NM_015352.2(POFUT1):c.588A>G (p.Pro196=) rs6579005 0.06274
NM_015352.2(POFUT1):c.964C>T (p.Leu322Phe) rs17268666 0.04125
NM_015352.2(POFUT1):c.1158C>T (p.Asp386=) rs7263390 0.01782
NM_015352.2(POFUT1):c.542+15T>C rs57677611 0.01440
NM_015352.2(POFUT1):c.736-13C>T rs137890154 0.00299
NM_015352.2(POFUT1):c.900G>A (p.Ser300=) rs78861748 0.00283
NM_015352.2(POFUT1):c.937G>A (p.Glu313Lys) rs35968884 0.00185
NM_015352.2(POFUT1):c.1042G>A (p.Asp348Asn) rs35259534 0.00123
NM_015352.2(POFUT1):c.736-11G>A rs200896099 0.00118
NM_015352.2(POFUT1):c.751A>G (p.Met251Val) rs79984831 0.00106
NM_015352.2(POFUT1):c.867G>A (p.Glu289=) rs140900043 0.00097
NM_015352.2(POFUT1):c.741C>T (p.Asn247=) rs138369052 0.00030
NM_015352.2(POFUT1):c.147T>C (p.Asp49=) rs113552438 0.00024
NM_015352.2(POFUT1):c.736-12C>T rs370903391 0.00011
NM_015352.2(POFUT1):c.735+11C>A rs543224684 0.00006
NM_015352.2(POFUT1):c.736-5C>T rs550972707 0.00002
NM_015352.2(POFUT1):c.542+10G>T rs543895409 0.00001
NM_015352.2(POFUT1):c.429+17C>T
NM_015352.2(POFUT1):c.542+11G>C rs139014980
NM_015352.2(POFUT1):c.542+11G>T rs139014980

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